NM_003392.7(WNT5A):c.20T>C (p.Ile7Thr) AND Autosomal dominant Robinow syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003389348.3
Allele description [Variation Report for NM_003392.7(WNT5A):c.20T>C (p.Ile7Thr)]
NM_003392.7(WNT5A):c.20T>C (p.Ile7Thr)
Condition(s)
- Name:
- Autosomal dominant Robinow syndrome 1
- Synonyms:
- Robinow dwarfism; Fetal face syndrome; Acral dysostosis with facial and genital abnormalities; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024455; MedGen: C4551475; Orphanet: 3107; Orphanet: 97360; OMIM: 180700
Assertion and evidence details
Last Updated: May 1, 2024